ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.3845dup (p.Ile1283fs) (rs1553535216)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485040 SCV000572344 likely pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing A c.3965dupT variant that is likely pathogenic has been identified in the NRXN1 gene.The c.3965dupT variant in the NRXN1 gene causes a frameshift starting with codon Isoleucine 1323, changes this amino acid to an Asparagine residue and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Ile1323AsnfsX47. This likely pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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